Baranova et al. BMC Medical Genetics 2020, 21(Suppl 1):186
https://doi.org/10.1186/s12881-020-01109-8

INTRODUCTION

Open Access

Medical genetics studies at the SBB-2019
and MGNGS-2019 conferences
Ancha V. Baranova1,2, Elena Yu. Leberfarb3, Georgy S. Lebedev4 and Yuriy L. Orlov3,4,5*
From 11th International Young Scientists School “Systems Biology and Bioinformatics” – SBB-2019
Novosibirsk, Russia. 24-28 June 2019
Current medical genetics research is oriented on nextgeneration sequencing technologies, genomics studies [1, 2].
This special issue of BMC Medical Genetics presents the
medical genetics works and case studies discussed at the“MGNGS-2019” conference in Suzdal, Russia in 2019, organized on the base of Moscow Medical Genetic Centre(http://ngs.med-gen.ru/). The Conference was focused on
the discussion of the research on medical genetics and sequencing, and new omics technologies.
This journal issue contains materials on genetics andmedical genetics presented in 2019 at the conference in
Moscow and SBB-2019 (Systems Biology and Bioinformatics - 2019) School in Novosibirsk. The SBB School series
on bioinformatics is organized annually since 2008 by theInstitute of Cytology and Genetics of the Siberian Branchof the Russian Academy of Sciences and Novosibirsk State
University (http://conf.bionet.nsc.ru/sbb2019/en/). We havepublished selected conference materials as special issues at
BMC Genetics and related BioMed Central journals [3–5].
The SBB Schools in Novosibirsk are satellite events for
BGRS\SB (Bioinformatics of Genome Regulation and Structure \ Systems Biology) multiconference [6], The special
issue on medical genetics is accompanied by other BioMed
Central post-conference journal issues in the genomics,
bioinformatics, and medical genetics areas at BMC Bioinformatics, BMC Medical Genomics, BMC Genomics, and
BMC Genetics, focusing on next-gen technologies applications [7–10]. We continued the BMC Med Genetics special
issues in 2019 [1]. We believe such events and public* Correspondence: orlov@d-health.institute3
Institute of Cytology and Genetics SB RAS, 630090 Novosibirsk, Russia
4
The Digital Health Institute, I.M.Sechenov First Moscow State Medical
University (Sechenov University), 119991 Moscow, Russia
Full list of author information is available at the end of the article

discussion at the platforms of international publishers willbring the attention of the journal readers to actual medical
challenges.
We open up this Special Issue by the population genomics study on schizophrenia by Evgeniya Poltavskaya
et al. [11] (this issue). The schizophrenia has a large genetic component. It is characterized by a substantial genetic heterogeneity with contributions from common,
rare, and de novo variants of a large number of genes, inaddition to environmental factors [12]. The clinical heterogeneity of schizophrenia is expressed in the differencein the leading symptoms and course of the disease.
PIP5K2A (Phosphatidylinositol-4-Phosphate 5-Kinase
Type II Alpha) has been investigated as a potential susceptibility gene for schizophrenia.
The authors studied the possible association between
eleven polymorphic variants of PIP5K2A and the clinicalfeatures of schizophrenia in a population of 384 white
Siberian patients with schizophrenia using genotyping.
PIP5K2A rs8341 and rs946961 showed significant association with course of schizophrenia (continuous or episodic). The experimental data confirm that PIP5K2A is a
genetic factor influencing the type of course of schizophrenia in Siberian population. Disturbances in thephosphatidylinositol pathways may be a possible reason
for the transition to a more severe continuous course of
schizophrenia. The studies on medical genetics problemson Siberian populations were presented in [13, 14].
The work by Xianping Meng and colleagues [15] (thisissue) continues association analysis topic using sequencing data. The authors discussed the molecular association
between hyperkalemia and lung squamous cell carcinomas. Hyperkalemia is caused by abnormalities in the normal bone formation and degradation cycle, categorized by© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License,
which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give
appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate ifchanges were made. The images or other third party material in this article are included in the article's Creative Commonslicence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commonslicence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain
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Baranova et al. BMC Medical Genetics 2020, 21(Suppl 1):186

the calcium level in the blood serum. A strong association
was reported between hyperkalemia and lung squamouscell carcinomas (LSCC) [16]. It is affecting patients in progressive stages, shortening survival times, and leading to poor
prognosis. A mega-analysis using 11 independent LSCC
RNA expression datasets was performed to test the hypothesis that genes influencing hyperkalemia may also play roles
in LSCC. The results suggested that LSCC and hyperkalemia
have a shared pathological basis and are mutual risk factors
for each other. Genes associated with hyperkalemia may also
play roles for the development of LSCC, and SPP1 could be
a promoter for both hyperkalemia and LSCC.
Xixi Xiang and co-authors [17] (this issue) discuss
therapeutic role of deep vein thrombosis inhibitor SP1
in post-stroke patients. Deep vein thrombosis (DVT) has
been well-known to be associated with stroke, which isalso supported by many clinical studies [18]. To study
the genes associated with DVT in the development ofstroke performed literature-based disease-gene relationship data analysis, then conducted mega-analysis based
RNA expression dataset mining. The results suggested
that SP1 could be a novel therapeutic target gene forpost-stroke treatment.
Ludmila Savinkova et al. [19] (this issue) studied unannotated single nucleotide polymorphisms (SNP) in the TATAbox of erythropoiesis genes and the associations with cognitive and mental disorders. There is growing evidence thatdifferent forms of anemia (changes in the number and quality of blood cells) may be involved in (or may accompany)
the pathogenesis of various cognitive and mental disorders,such as Alzheimer’s and Parkinson’s diseases, depression ofvarious severity levels, bipolar disorders, and schizophrenia.
Higher hemoglobin concentrations in the blood may lead to
hyperviscosity, hypovolemia, and lung diseases, which may
cause brain hypoxia and anomalies of brain function, which
may also result in cognitive deficits. In the study, a search forunannotated single-nucleotide polymorphisms of erythroid
genes was performed using the authors software tool SNPTATA_Z-tester, the Web service for in silico estimation of
the affinity of TATA-binding protein (TBP) to a given SNP
sequence [20, 21]. The uncovered candidate SNP markers oferythropoiesis anomalies may also be studied in cohorts ofpatients with mental disorders with comorbid erythropoiesis
diseases. Applications of SNP marker analysis using TBP
binding estimates in the gene promoters provide fundamental background for biomedical studies [22, 23].
Peter Sparber et al. [24] (this issue) present case report
on myotonia congenita - a rare neuromuscular disease,which is characterized by a delay in muscle relaxation
after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen disease)and recessive form (Becker disease) and both are causedby pathogenic variants in the CLCN1 gene. To the publication date only one noncanonical splice site variant inPage 2 of 3

the CLCN1 gene was functionally characterized. The authors further contribute to this field by evaluation themolecular mechanism of splicing alteration in homozygous state reporting a clinical case of an affected patient.
Andrey Marakhonov and colleagues [25] (this issue)
discuss prenatal diagnosis of Norrie disease. Hereditary
ophthalmic pathology is a genetically heterogeneousgroup of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes [26].
The most challenging situation can arise when prenatal
diagnosis of ophthalmic pathology is needed during an
ongoing pregnancy. The case is for childbirth risk prognosis at 7–8 week of gestation because a previous child in
the family, has congenital aniridia, glaucoma, severe psychomotor delay, and has had several ophthalmic surgeries.
Considering the lack of pathogenic changes and precise
diagnosis for the affected boy, NGS sequencing of clinically relevant genes was performed for the ongoing pregnancy; it revealed a novel hemizygous substitution in the
NDP gene, which is associated with Norrie disease. Clinical polymorphism of hereditary ophthalmic pathology
can severely complicate establishment of an exact diagnosis and make it time- and cost-consuming. NGS appears
to be the method-of-choice in such complicated cases.
Overall, this journal issue includes reports of recent
medical genetics applications, as well as case reports,
continuing series on BMC Med Genetics and BMC Med
Genomics special post-conference journal issues [1, 2].
We hope for continuing international exchange and education via the schools and competitions for young scientists(https://peerj.com/collections/72-bgrs-sb-2020/).
We invite our readers worldwide to attend the systems
biology meetings in Russia - Digital Medicine Forum(Digital Medicine Forum) and MGNGS-2020 (Medical
Genetics - Next-Generation Sequencing) event postponed to 2021 (http://ngs.med-gen.ru/mgngs20/).
Acknowledgments
We are grateful to conference committees and to the Research Center for
Medical Genetics and Sechenov University (Moscow) for organization of
MGNGS-2019 meeting in Suzdal, and SBB-19 School in Novosibirsk, Russia.
This work was supported by a grant from the Ministry of Education andScience of the Russian Federation, a unique project identifier
RFMEFI60819X0278.
The guest editors of the special issue are grateful to the conference andschool organizing committee members, special thanks to Dr. M.Yu.Skoblov
and Prof T.V.Tatarinova and to all the reviewers who helped in the peerreview and the editing.
About this supplement
This article has been published as part of BMC Medical Genetics Volume 21
Supplement 1, 2020: Selected Topics in “Systems Biology and Bioinformatics” 2019: medical genetics. The full contents of the supplement are available
online at https://bmcmedgenet.biomedcentral.com/articles/supplements/
volume-21-supplement-1.
Authors’ contributions
AB, and YO are guest editors of the special post-conference issues and Program Committee members of SBB-2019 School. EL and GL are the invitedBaranova et al. BMC Medical Genetics 2020, 21(Suppl 1):186

editors and the committee members of the Conference. The authors read,
revised, and approved the final manuscript.
Funding
Publication of this article was not covered by sponsorship.
Competing interests
The authors declare that they have no competing interests.
Author details
1
George Mason University, Fairfax, VA 22030, USA. 2Research Centre for
Medical Genetics, 115522 Moscow, Russia. 3Institute of Cytology andGenetics SB RAS, 630090 Novosibirsk, Russia. 4The Digital Health Institute,
I.M.Sechenov First Moscow State Medical University (Sechenov University),
119991 Moscow, Russia. 5Novosibirsk State University, 630090 Novosibirsk,
Russia.
Published: 22 October 2020
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